Canonical Allele Identifier: CA9765426

Gene: BTBD3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.11923006G>A , CM000682.2:g.11923006G>A	GRCh38
NC_000020.10:g.11903654G>A , CM000682.1:g.11903654G>A	GRCh37
NC_000020.9:g.11851654G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378226.7:c.909G>A MANE Select	ENSP00000367471.2:p.Ala303=
ENST00000254977.7:c.726G>A	ENSP00000254977.3:p.Ala242=
ENST00000378226.6:c.909G>A	ENSP00000367471.2:p.Ala303=
ENST00000399006.6:c.726G>A	ENSP00000381971.2:p.Ala242=
ENST00000405977.5:c.909G>A	ENSP00000384545.1:p.Ala303=
ENST00000449299.5:c.*482G>A	ENSP00000410502.1:n.*482G>A
ENST00000471120.1:n.639G>A
ENST00000473180.1:n.470G>A
ENST00000618296.4:c.726G>A	ENSP00000477589.1:p.Ala242=
ENST00000618918.4:c.726G>A	ENSP00000483520.1:p.Ala242=
NM_001282550.1:c.726G>A	NP_001269479.1:p.Ala242=
NM_001282551.1:c.726G>A	NP_001269480.1:p.Ala242=
NM_001282552.2:c.456G>A	NP_001269481.1:p.Ala152=
NM_001282554.1:c.456G>A	NP_001269483.1:p.Ala152=
NM_014962.3:c.909G>A	NP_055777.1:p.Ala303=
NM_181443.3:c.1038G>A	NP_852108.2:p.Ala346=
XM_011529185.1:c.456G>A	XP_011527487.1:p.Ala152=
XM_017027728.2:c.726G>A	XP_016883217.1:p.Ala242=
XM_017027730.2:c.456G>A	XP_016883219.1:p.Ala152=
NM_014962.4:c.909G>A MANE Select	NP_055777.1:p.Ala303=
NM_001282550.2:c.726G>A	NP_001269479.1:p.Ala242=
NM_001282552.3:c.456G>A	NP_001269481.1:p.Ala152=
NM_001282550.3:c.726G>A	NP_001269479.1:p.Ala242=
NM_001282551.2:c.726G>A	NP_001269480.1:p.Ala242=
NM_001282554.2:c.456G>A	NP_001269483.1:p.Ala152=
NM_001395003.1:c.726G>A	NP_001381932.1:p.Ala242=
NM_001395004.1:c.456G>A	NP_001381933.1:p.Ala152=
NM_001395005.1:c.909G>A	NP_001381934.1:p.Ala303=
NM_001395006.1:c.909G>A	NP_001381935.1:p.Ala303=
NM_001395007.1:c.726G>A	NP_001381936.1:p.Ala242=
NM_001395008.1:c.456G>A	NP_001381937.1:p.Ala152=
NM_001395009.1:c.726G>A	NP_001381938.1:p.Ala242=
NM_181443.4:c.726G>A	NP_852108.3:p.Ala242=